Abstract：
Preclinical evidence implicating cannabinoid receptor 2 (CB2) in various diseases has led researchers to question whether CB2 genetics influence aetiology or progression. Associations between conditions and genetic loci are often studied via single nucleotide polymorphism (SNP) prevalence in case versus control populations. In the CNR2 coding exon, ~36 SNPs have high overall population prevalence (minor allele frequencies [MAF] ~37%), including non-synonymous SNP (ns-SNP) rs2501432 encoding CB2 63Q/R. Interspersed are ~27 lower frequency SNPs, four being ns-SNPs. CNR2 introns also harbour numerous SNPs. This review summarises CB2 ns-SNP molecular pharmacology and evaluates evidence from ~70 studies investigating CB2 genetic variants with proposed linkage to disease. Although CNR2 genetic variation has been associated with a wide variety of conditions, including osteoporosis, immune-related disorders, and mental illnesses, further work is required to robustly validate CNR2 disease links and clarify specific mechanisms linking CNR2 genetic variation to disease pathophysiology and potential drug responses.
摘要：
在各种疾病中涉及大麻素受体2（CB2）的临床前证据使研究人员质疑CB2遗传学是否会影响病因或进展。通常通过病例与对照人群中的单核苷酸多态性（SNP）患病率来研究条件与遗传基因座之间的关联。在CNR2编码外显子中，~36个SNP具有较高的总体人群患病率(次要等位基因频率[MAF]~37%)，包括编码CB263Q/R的非同义SNP(ns-SNP)rs2501432。散布着~27个较低频率的SNP，四个是ns-SNP。CNR2内含子也包含许多SNP。这篇综述总结了CB2ns-SNP分子药理学，并评估了约70项研究CB2遗传变异与疾病相关的证据。尽管CNR2遗传变异与多种条件有关，包括骨质疏松症,免疫相关疾病，和精神疾病，需要进一步的工作来强有力地验证CNR2疾病的联系,并阐明将CNR2遗传变异与疾病病理生理学和潜在药物反应联系起来的具体机制.
